| 1 | CLN2, TPP1
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| Glial fibrillary acidic protein is elevated in the lysosomal storage disease classical late-infantile neuronal ceroid lipofuscinosis, but is not a component of the storage material.
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| Xu S, Sleat DE, Jadot M, Lobel P.
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| Biochem J 428(3):355-62.PMID: 20370715 2010
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| 2 | CLN1, CLN10, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8
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| The function of CLN3P, the Batten disease protein.
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| Rakheja D, Narayan SB, Bennett MJ.
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| Mol Genet Metab 93(3):269-74. Review. No abstract available. Erratum in: Mol Genet Metab. 2008 Jun;94(2):270.
2008
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| 3 | CLN1, CLN2, CLN3, CLN5, CLN6, CLN8, PPT2
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| Neuronal ceroid lipofuscinosis: a common pathway?
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| Persaud-Sawin DA, Mousallem T, Wang C, Zucker A, Kominami E, Boustany RM.
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| Pediatr Res 61(2):146-52. 2007
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| 4 | CLN2, TPP1
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| Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman.
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| Koul R, Al-Futaisi A, Ganesh A, Rangnath Bushnarmuth S.
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| J Child Neurol 22(5):555-9.
2007
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| 5 | CLN2, TPP1
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| Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
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| Steinfeld R, Steinke HB, Isbrandt D, Kohlschutter A, Gartner J.
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| Hum Mol Genet 13(20):2483-91. Epub 2004 Aug 18. 2004
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| 6 | CLN2, TPP1
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| The lysosomal degradation of neuromedin B is dependent on tripeptidyl peptidase-I: evidence for the impairment of neuropeptide degradation in late-infantile neuronal ceroid lipofuscinosis.
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| Kopan S, Sivasubramaniam U, Warburton MJ.
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| Biochem Biophys Res Commun 319(1):58-65. 2004
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| 7 | CLN2, CLN6, TPP1
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| Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.
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| Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME.
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| Am J Hum Genet 70(2):324-35. 2002
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| 8 | CLN1, CLN2, TPP1
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| Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2).
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| Hofmann SL, Atashband A, Cho SK, Das AK, Gupta P, Lu JY.
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| Curr Mol Med 2(5):423-37. Review. 2002
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| 9 | CLN2, TPP1
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| Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product.
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| Kurachi Y, Oka A, Itoh M, Mizuguchi M, Hayashi M, Takashima S.
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| Acta Neuropathol (Berl) 102(1):20-6. 2001
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| 10 | CLN1, CLN2, CLN3, TPP1
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| Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3.
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| Chattopadhyay S, Pearce DA.
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| Mol Genet Metab 71(1-2):207-11. 2000
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| 11 | CLN1, CLN2, PPT1, TPP1
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| Developmental changes in the expression of neuronal ceroid lipofuscinoses-linked proteins.
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| Suopanki J, Partanen S, Ezaki J, Baumann M, Kominami E, Tyynela J.
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| Mol Genet Metab 71(1-2):190-4. 2000
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| 12 | CLN2, TPP1
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| Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis.
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| Rawlings ND, et al.
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| Biochim Biophys Acta 1429(2):496-500. 1999
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| 13 | CLN2, TPP1
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| Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may Be the result of CLN2 mutations.
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| Wisniewski KE, et al.
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| Mol Genet Metab 66(4):248-52. 1999
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| 14 | CLN2, TPP1
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| Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
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| Sleat DE, et al.
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| Am J Hum Genet 64(6):1511-23. 1999
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| 15 | CLN2, CLN2, TPP1
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| Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.
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| Hartikainen JM, et al.
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| Mol Genet Metab 67(2):162-8. 1999
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| 16 | CLN1, CLN2, CLN3, CLN5, PPT1, TPP1
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| Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5.
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| Mole SE, et al.
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| Hum Mutat 14(3):199-215 1999
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| 17 | CLN2,ILK, CLN2, TAF10, TPP1
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| Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis.
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| Liu CG, Sleat DE, Donnelly RJ, Lobel P.
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| Genomics 50 : 206-212. 1998
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| 18 | CLN2, TPP1
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| Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.
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| Zhong N, et al.
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| Clin Genet 54 : 234-238. 1998
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| 19 | CLN2, TPP1
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| The expression of late infantile neuronal ceroid lipofuscinosis (CLN2) gene product in human brains.
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| Oka A, et al.
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| Neurosci Lett 257 : 113-115. 1998
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| 20 | CLN2, CLN6, TPP1
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| Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.
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| Sharp JD, et al.
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| Hum Mol Genet 6 : 591-595. 1997
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| 21 | CLN2, TPP1
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| Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
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| Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P.
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| Science 277(5333):1802-5. 1997
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